A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548940



Internal ID16336349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:199085011..199133482hg38UCSC Ensembl
Innerchr1:199054140..199102610hg19UCSC Ensembl
Innerchr1:197320763..197369233hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3848472
hg1948471
hg1848471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv734462, nssv734463
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548940
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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